Wake N, Seki T, Fujita H, Okubo H, Sakai K, Okuyama K, Hayashi H, Shiina Y, Sato H, Kuroda M
Cancer Res. 1984 Mar;44(3):1226-30.
There are two main mechanisms of origin for complete hydatidiform mole: (a) fertilization of an empty egg by a haploid sperm followed by duplication (monospermic mole); and (b) fertilization of such an egg by two haploid spermatozoa (dispermic mole). The former is inevitably homozygous (homozygous mole), whereas the latter may be heterozygous for a given genetic marker (heterozygous mole). A recent cytogenetic study showed that three cases of choriocarcinoma were undoubtedly heterozygous, which prompted us to compare the incidence of postmolar sequelae between patients with homozygous moles and those with heterozygous moles. Making use of chromosomal heteromorphisms and human lymphocyte antigen and phosphoglucuromutase 1 polymorphisms, we established the androgenetic origin of a complete mole in 49 of 56 cases. Homozygosity was confirmed in 21 moles, and heterozygosity was confirmed in five. Three of five patients with heterozygous moles developed postmolar trophoblastic disease, whereas none of the 21 patients with homozygous moles suffered postmolar trophoblastic disease except one who showed signs of degenerating residual trophoblasts. Consistent with this observation is the fact that all of the four destructive moles studied here were of dispermic origin. Thus, heterozygous moles seem to have a higher malignant potential than do homozygous moles.
（a）单倍体精子使空卵受精，随后发生复制（单精子性葡萄胎）；（b）两个单倍体精子使此类卵子受精（双精子性葡萄胎）。前者必然是纯合子（纯合子葡萄胎），而后者对于特定遗传标记可能是杂合子（杂合子葡萄胎）。最近一项细胞遗传学研究表明，三例绒毛膜癌无疑是杂合子，这促使我们比较纯合子葡萄胎患者和杂合子葡萄胎患者葡萄胎后后遗症的发生率。利用染色体异态性、人类淋巴细胞抗原和磷酸葡萄糖醛酸变位酶1多态性，我们确定了56例中的49例完全性葡萄胎的父系起源。在21例葡萄胎中证实为纯合子，5例证实为杂合子。5例杂合子葡萄胎患者中有3例发生了葡萄胎后滋养细胞疾病，而21例纯合子葡萄胎患者中除1例显示有退化的残留滋养细胞迹象外，均未患葡萄胎后滋养细胞疾病。与此观察结果一致的是，此处研究的所有4例侵蚀性葡萄胎均为双精子起源。因此，杂合子葡萄胎似乎比纯合子葡萄胎具有更高的恶性潜能。
